Mutagenetix > Incidental Mutation

Incidental Mutation 'R7467:Sema7a'

578873

Institutional Source

Beutler Lab

Gene Symbol

Sema7a

Ensembl Gene

ENSMUSG00000038264

Gene Name

sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A

Synonyms

Semal, Semaphorin K1, CDw108, 2900057C09Rik

MMRRC Submission

045541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R7467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57847395-57870148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57868705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 606 (Y606H)

Ref Sequence

ENSEMBL: ENSMUSP00000042211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043059]

AlphaFold

Q9QUR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000043059
AA Change: Y606H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: Y606H

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
Sema	72	472	4.11e-119	SMART
PSI	490	540	7.64e-9	SMART
IG	549	630	3.63e-1	SMART
transmembrane domain	644	663	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (103/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: The development of the olfactory tract is impaired in homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 56,098,952 (GRCm39)	V153I	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	A	G	7: 44,795,331 (GRCm39)	Y443H	probably benign	Het
Apbb1	A	G	7: 105,215,339 (GRCm39)	V434A	probably benign	Het
Atrip	A	G	9: 108,898,422 (GRCm39)	M199T	probably damaging	Het
Atxn2	T	C	5: 121,940,330 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,708,103 (GRCm39)	T240A	probably benign	Het
Btf3l4	A	T	4: 108,675,589 (GRCm39)		probably null	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Cdk15	G	T	1: 59,328,938 (GRCm39)	W282L	probably null	Het
Cflar	T	A	1: 58,765,597 (GRCm39)	M1K	probably null	Het
Champ1	C	A	8: 13,928,579 (GRCm39)	P246T	possibly damaging	Het
Crat	A	C	2: 30,299,994 (GRCm39)	F129V	probably damaging	Het
Csmd3	T	C	15: 47,492,640 (GRCm39)	N2256S		Het
Cwh43	C	A	5: 73,569,311 (GRCm39)	Q118K	probably damaging	Het
Daam1	A	T	12: 72,032,580 (GRCm39)	K949*	probably null	Het
Ddn	C	G	15: 98,703,247 (GRCm39)	E682Q	possibly damaging	Het
Des	T	A	1: 75,339,605 (GRCm39)	M321K	possibly damaging	Het
Dnm2	T	C	9: 21,392,672 (GRCm39)	V460A	probably damaging	Het
Dst	G	A	1: 34,230,236 (GRCm39)	E2610K	probably benign	Het
Efr3a	C	T	15: 65,729,360 (GRCm39)	T660I	possibly damaging	Het
Eogt	T	C	6: 97,119,794 (GRCm39)	E138G	probably benign	Het
Epha8	G	A	4: 136,658,399 (GRCm39)	A992V	possibly damaging	Het
Exoc2	A	T	13: 31,109,716 (GRCm39)	D217E	probably damaging	Het
Fam222b	T	C	11: 78,045,173 (GRCm39)	S245P	probably damaging	Het
Fbxo45	T	C	16: 32,057,339 (GRCm39)	Y185C	probably damaging	Het
Fbxo47	T	C	11: 97,755,993 (GRCm39)	T170A	probably benign	Het
Fbxw26	A	T	9: 109,561,765 (GRCm39)	V143E	probably benign	Het
Foxb2	T	C	19: 16,851,004 (GRCm39)	M1V	probably null	Het
Gm11596	C	A	11: 99,683,962 (GRCm39)	V53L	unknown	Het
Gm47791	A	G	1: 82,748,547 (GRCm39)	*140Q	probably null	Het
Gpr179	C	T	11: 97,226,115 (GRCm39)	M2013I	probably benign	Het
Hck	T	A	2: 152,971,850 (GRCm39)	L137*	probably null	Het
Hectd4	T	A	5: 121,462,024 (GRCm39)	C964S	possibly damaging	Het
Hexa	T	C	9: 59,464,683 (GRCm39)		probably null	Het
Ifna12	C	A	4: 88,521,502 (GRCm39)	S15I	possibly damaging	Het
Kif18b	C	A	11: 102,807,234 (GRCm39)	V34L	probably damaging	Het
Kif18b	A	T	11: 102,803,174 (GRCm39)		probably null	Het
Kifap3	A	T	1: 163,643,402 (GRCm39)	H209L	probably benign	Het
Klhl1	A	T	14: 96,360,713 (GRCm39)	D712E	probably damaging	Het
Kmt2c	T	C	5: 25,513,530 (GRCm39)	D3088G	probably damaging	Het
Mageb3	A	G	2: 121,784,953 (GRCm39)	Y250H	probably damaging	Het
Manba	G	T	3: 135,250,562 (GRCm39)	E396D	probably damaging	Het
Mapkbp1	T	A	2: 119,852,669 (GRCm39)	V997E	probably damaging	Het
Mdc1	A	G	17: 36,155,448 (GRCm39)	H41R	probably benign	Het
Mis18a	T	G	16: 90,516,866 (GRCm39)	M179L	probably benign	Het
Mmp25	C	G	17: 23,863,756 (GRCm39)	G25R	possibly damaging	Het
Mmp3	A	G	9: 7,447,621 (GRCm39)	D202G	possibly damaging	Het
Mmp3	C	T	9: 7,450,125 (GRCm39)	P286S	probably benign	Het
Mrgpra2b	G	A	7: 47,114,277 (GRCm39)	H152Y	possibly damaging	Het
Mslnl	A	T	17: 25,955,895 (GRCm39)	M1L	probably benign	Het
Myo1d	G	A	11: 80,477,743 (GRCm39)	T880I	probably damaging	Het
Ncaph	T	A	2: 126,975,795 (GRCm39)		probably benign	Het
Nln	T	C	13: 104,161,530 (GRCm39)	D680G	possibly damaging	Het
Noct	C	T	3: 51,132,622 (GRCm39)	A33V	probably benign	Het
Nolc1	A	G	19: 46,070,773 (GRCm39)	T325A	unknown	Het
Nr2e3	A	G	9: 59,856,434 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,155,459 (GRCm39)	H450L	probably benign	Het
Or13a21	T	C	7: 139,999,287 (GRCm39)	N133S	probably benign	Het
Or2t43	A	C	11: 58,457,288 (GRCm39)	N294K	possibly damaging	Het
Or5ak24	T	G	2: 85,261,171 (GRCm39)	M1L	possibly damaging	Het
Or5an1	T	A	19: 12,260,839 (GRCm39)	C142*	probably null	Het
Or6b3	T	A	1: 92,439,570 (GRCm39)	Y60F	possibly damaging	Het
Pank2	T	A	2: 131,115,967 (GRCm39)	N128K	possibly damaging	Het
Pcdha3	T	C	18: 37,080,584 (GRCm39)	V442A	probably damaging	Het
Pds5b	T	A	5: 150,659,792 (GRCm39)	S252T	probably damaging	Het
Pfpl	T	C	19: 12,405,878 (GRCm39)	L43S	probably damaging	Het
Pigu	T	A	2: 155,141,009 (GRCm39)	I295F	probably damaging	Het
Piwil4	T	C	9: 14,616,337 (GRCm39)	Y673C	probably damaging	Het
Pls1	A	G	9: 95,651,166 (GRCm39)	Y414H	possibly damaging	Het
Ppp1r13l	A	T	7: 19,105,305 (GRCm39)	Q359L	probably damaging	Het
Ppp2r5c	A	G	12: 110,519,317 (GRCm39)	Y263C	probably damaging	Het
Prrc2c	A	T	1: 162,504,932 (GRCm39)	S2638R	possibly damaging	Het
Prss39	T	A	1: 34,538,473 (GRCm39)		probably null	Het
Psmd1	G	A	1: 86,044,355 (GRCm39)	V648M	probably damaging	Het
Rad50	T	C	11: 53,545,735 (GRCm39)	D1196G	probably damaging	Het
Rfx1	T	C	8: 84,800,542 (GRCm39)	Y48H	possibly damaging	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rpl9	T	C	5: 65,548,310 (GRCm39)	T9A	probably benign	Het
Samd4	A	G	14: 47,325,313 (GRCm39)	N598D	probably benign	Het
Sf3b3	A	G	8: 111,538,088 (GRCm39)	S1150P	possibly damaging	Het
Sirt1	T	C	10: 63,157,929 (GRCm39)	N495S	probably benign	Het
Slc17a3	T	C	13: 24,030,950 (GRCm39)		probably null	Het
Slc25a22	T	C	7: 141,013,889 (GRCm39)	T24A	probably benign	Het
Slc30a9	T	C	5: 67,502,987 (GRCm39)	I363T	probably benign	Het
Srbd1	A	G	17: 86,406,702 (GRCm39)	V561A	probably damaging	Het
Srgap1	C	A	10: 121,691,344 (GRCm39)	E297*	probably null	Het
Srgap2	T	C	1: 131,220,405 (GRCm39)	S896G	probably damaging	Het
Sspo	T	C	6: 48,463,237 (GRCm39)	C3730R	probably damaging	Het
Stat2	T	A	10: 128,113,772 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,977 (GRCm39)	K581E	unknown	Het
Tdpoz6	T	A	3: 93,600,265 (GRCm39)	T35S	probably benign	Het
Thbs1	T	C	2: 117,948,681 (GRCm39)	S446P	probably damaging	Het
Thsd7a	T	C	6: 12,331,584 (GRCm39)	Y1330C		Het
Tmem121	C	A	12: 113,152,690 (GRCm39)	P303T	probably benign	Het
Tmem87b	T	A	2: 128,691,071 (GRCm39)		probably null	Het
Tmem98	A	T	11: 80,711,011 (GRCm39)		probably null	Het
Trpm3	T	A	19: 22,955,698 (GRCm39)	I1091N	possibly damaging	Het
Urb2	A	G	8: 124,755,250 (GRCm39)	E319G	probably benign	Het
Vmn1r170	A	T	7: 23,306,320 (GRCm39)	M241L	not run	Het
Vmn1r238	T	C	18: 3,123,393 (GRCm39)	N7S	probably benign	Het
Wdr6	T	C	9: 108,450,201 (GRCm39)	H1109R	probably benign	Het
Zdhhc13	T	C	7: 48,454,156 (GRCm39)	V193A	probably benign	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp738	T	A	13: 67,821,080 (GRCm39)	E89V	probably benign	Het
Zswim3	T	A	2: 164,661,795 (GRCm39)	F92I	possibly damaging	Het

Other mutations in Sema7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Sema7a	APN	9	57,863,121 (GRCm39)	missense	probably damaging	1.00
IGL01967:Sema7a	APN	9	57,863,678 (GRCm39)	missense	probably damaging	1.00
IGL02030:Sema7a	APN	9	57,862,423 (GRCm39)	missense	possibly damaging	0.91
IGL02031:Sema7a	APN	9	57,862,423 (GRCm39)	missense	possibly damaging	0.91
IGL02115:Sema7a	APN	9	57,868,183 (GRCm39)	missense	probably damaging	1.00
IGL02203:Sema7a	APN	9	57,864,889 (GRCm39)	missense	probably benign
IGL02808:Sema7a	APN	9	57,867,631 (GRCm39)	missense	probably benign	0.25
G1citation:Sema7a	UTSW	9	57,867,619 (GRCm39)	missense	probably damaging	1.00
R0531:Sema7a	UTSW	9	57,867,876 (GRCm39)	missense	possibly damaging	0.95
R1603:Sema7a	UTSW	9	57,867,959 (GRCm39)	missense	probably benign	0.18
R1845:Sema7a	UTSW	9	57,862,182 (GRCm39)	missense	possibly damaging	0.65
R4598:Sema7a	UTSW	9	57,860,834 (GRCm39)	missense	probably benign	0.04
R4903:Sema7a	UTSW	9	57,862,378 (GRCm39)	missense	probably benign	0.00
R4954:Sema7a	UTSW	9	57,863,663 (GRCm39)	missense	probably damaging	1.00
R5172:Sema7a	UTSW	9	57,864,961 (GRCm39)	missense	probably benign	0.02
R5514:Sema7a	UTSW	9	57,863,046 (GRCm39)	missense	probably damaging	1.00
R5618:Sema7a	UTSW	9	57,867,566 (GRCm39)	missense	possibly damaging	0.71
R5652:Sema7a	UTSW	9	57,867,942 (GRCm39)	missense	probably damaging	1.00
R5793:Sema7a	UTSW	9	57,867,540 (GRCm39)	missense	probably damaging	0.98
R6365:Sema7a	UTSW	9	57,862,188 (GRCm39)	missense	probably benign	0.31
R6736:Sema7a	UTSW	9	57,867,854 (GRCm39)	missense	probably damaging	1.00
R6822:Sema7a	UTSW	9	57,867,619 (GRCm39)	missense	probably damaging	1.00
R6829:Sema7a	UTSW	9	57,868,181 (GRCm39)	missense	probably benign	0.00
R7380:Sema7a	UTSW	9	57,868,847 (GRCm39)	missense	unknown
R7381:Sema7a	UTSW	9	57,860,852 (GRCm39)	missense	probably benign	0.00
R7593:Sema7a	UTSW	9	57,867,858 (GRCm39)	missense	probably benign	0.06
R7601:Sema7a	UTSW	9	57,847,560 (GRCm39)	missense	probably benign	0.14
R7879:Sema7a	UTSW	9	57,862,363 (GRCm39)	missense	probably damaging	1.00
R8360:Sema7a	UTSW	9	57,862,974 (GRCm39)	unclassified	probably benign
R9236:Sema7a	UTSW	9	57,862,408 (GRCm39)	missense	probably damaging	1.00
R9467:Sema7a	UTSW	9	57,864,608 (GRCm39)	missense	probably damaging	1.00
R9475:Sema7a	UTSW	9	57,862,188 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GCTCCATTGCAGAAGGTTTCC -3'
(R):5'- TGACATTATTCTAGTACTCCTGGGC -3'

Sequencing Primer
(F):5'- CATTGCAGAAGGTTTCCCTGGC -3'
(R):5'- AGCTCCTAGAAGCCCTAGTG -3'

Posted On

2019-10-07